Varaico: Literature-Extracted Genetic Variants

Gene:DHX57
Variant:p.G40G

DHX57

96 papers

Pfam Domains

UBA_DHX57_Naa 69–111UCSCDHX57, N-terminal UBA domain
RWDaa 246–419UCSCRWD domain
zf-CCCH_4aa 303–324UCSCCCCH-type zinc finger
DEADaa 548–709UCSCDEAD/DEAH box helicase
Helicase_Caa 829–969UCSCHelicase conserved C-terminal domain
WHD_HA2aa 1038–1064UCSCHelicase associated domain (HA2), winged-helix

Gene Aliases

HGNC Name

DExH-box helicase 57

HGNC Alias Symbol

DDX57

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_198963.3
p.G40G
c.120C>T
Surrounding Variants
1 paper
NM_198963.3
p.G43V
c.128G>T
1 paper
NM_198963.3
p.G44G
c.132T>A
1 paper
NM_198963.3
p.S36N
c.107G>A
1 paper
NM_198963.3
p.G46V
c.137G>T
1 paper
NM_198963.3
p.G49S
c.145G>A
1 paper
NM_198963.3
p.G18Fs
c.52delinsAGFs
1 paper
NM_198963.3
p.G16A
c.47G>C
1 paper
NM_198963.3
p.P11R
c.32C>G
1 paper
NM_198963.3
p.R75Splc
c.224+1G>A
1 paper
NM_198963.3
p.K91T
c.272A>C
1 paper
NM_198963.3
p.L114I
c.340C>A
1 paper
NM_198963.3
p.R116*
c.346C>T
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